A case of double autosomal trisomy with mosaicism: 48/XX (trisomy 18+21) and 46/XX

A female infant presenting predominantly with symptoms and signs of trisomy 18 was found, on chromosomal analysis, to have mosaicism of two cell lines: double autosomal trisomy of chromosomes Nos. 18 and 21, and a normal cell line. The various mechanisms which might have produced this anomaly are di...

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Published inThe Journal of pediatrics Vol. 66; no. 6; pp. 1055 - 1060
Main Authors Yu-Feng Hsu, Lillian, Schwager, Arthur J., Nemhauser, Iris, Sobel, Edna H.
Format Journal Article
LanguageEnglish
Published United States Mosby, Inc 01.06.1965
Subjects
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 18
Genetics, Medical
Humans
Infant
Infant, Newborn
Mosaicism
Old Medline
Trisomy
Trisomy 18 Syndrome
CHROMOSOME ABNORMALITIES
GENETICS, HUMAN
INFANT, NEWBORN
TRISOMY
MOSAICISM
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Summary:A female infant presenting predominantly with symptoms and signs of trisomy 18 was found, on chromosomal analysis, to have mosaicism of two cell lines: double autosomal trisomy of chromosomes Nos. 18 and 21, and a normal cell line. The various mechanisms which might have produced this anomaly are discussed, the one favored being mitotic nondisjunction of chromosomes 18 and 21 during the early post-zygotic stage after the first cleavage division. To our knowledge this is the first such case reported.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(65)80092-0